Variant report

Variant	rs11944549
Chromosome Location	chr4:48132347-48132348
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48131478..48133698-chr4:48139197..48141386,3	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10027991	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10938524	0.85[ASN][1000 genomes]
rs12332001	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12512766	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1507919	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16860999	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2089510	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2243840	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2464502	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661529	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661533	0.81[EUR][1000 genomes]
rs2661543	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2661544	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2661547	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2661548	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704399	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2704426	1.00[ASN][1000 genomes]
rs2704433	0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2704435	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2704436	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2704439	0.81[EUR][1000 genomes]
rs3805184	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4695341	0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6447616	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6814443	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6819592	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7659164	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7678246	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7689953	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs882715	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11944549	TXK	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48123000-48137600	Weak transcription	Gastric	stomach
2	chr4:48126600-48133400	Enhancers	K562	blood
3	chr4:48129000-48132400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr4:48129200-48136600	Enhancers	Fetal Heart	heart
5	chr4:48129400-48135000	Enhancers	Fetal Thymus	thymus
6	chr4:48129800-48140800	Weak transcription	Fetal Stomach	stomach
7	chr4:48129800-48157400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr4:48130200-48132600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:48130200-48134400	Weak transcription	Primary B cells from cord blood	blood
10	chr4:48130200-48137800	Weak transcription	Esophagus	oesophagus
11	chr4:48130400-48132400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:48130400-48133000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr4:48130400-48133000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:48130400-48133400	Weak transcription	Small Intestine	intestine
15	chr4:48130400-48135400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr4:48130400-48137800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr4:48130400-48138400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:48130400-48139000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr4:48130400-48139800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr4:48130400-48152200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr4:48130400-48155400	Weak transcription	Psoas Muscle	Psoas
22	chr4:48130400-48156200	Weak transcription	Adipose Nuclei	Adipose
23	chr4:48130400-48156800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr4:48130400-48157600	Weak transcription	Colonic Mucosa	Colon
25	chr4:48130600-48132600	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr4:48130600-48132800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr4:48130600-48135400	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr4:48130600-48136000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr4:48130600-48137000	Weak transcription	Liver	Liver
30	chr4:48130600-48142800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr4:48130600-48146000	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr4:48130800-48133800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:48131000-48132400	Enhancers	HSMMtube	muscle
34	chr4:48131000-48132600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
35	chr4:48131000-48133200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
36	chr4:48131000-48135600	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr4:48131000-48137000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr4:48131000-48137800	Weak transcription	Aorta	Aorta
39	chr4:48131400-48133000	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
40	chr4:48131400-48133200	Enhancers	Left Ventricle	heart
41	chr4:48131400-48133600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
42	chr4:48131600-48132400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr4:48131600-48132800	Enhancers	Right Atrium	heart
44	chr4:48131800-48132400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr4:48131800-48132600	Transcr. at gene 5' and 3'	Primary T cells fromperipheralblood	blood
46	chr4:48131800-48132600	Enhancers	Pancreas	Pancrea
47	chr4:48131800-48132600	Enhancers	Right Ventricle	heart
48	chr4:48131800-48132800	Transcr. at gene 5' and 3'	Primary T helper naive cells from peripheral blood	blood
49	chr4:48131800-48133000	Enhancers	Placenta	Placenta
50	chr4:48131800-48135600	Weak transcription	Rectal Mucosa Donor 29	rectum

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